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2025-05-09 20:32:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001164470 1044 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens membrane-spanning 4-domains, subfamily A, member 12
(MS4A12), transcript variant 2, mRNA.
ACCESSION NM_001164470
VERSION NM_001164470.1 GI:256600189
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1044)
AUTHORS Koslowski,M., Tureci,O., Huber,C. and Sahin,U.
TITLE Selective activation of tumor growth-promoting Ca2+ channel MS4A12
in colon cancer by caudal type homeobox transcription factor CDX2
JOURNAL Mol. Cancer 8, 77 (2009)
PUBMED 19781065
REMARK GeneRIF: RNA interference of CDX1 and CDX2 and chromatin
immunoprecipitation in colon cancer cells revealed that MS4A12
transcript and protein expression is essentially dependent on the
presence of endogenous CDX2.
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 1044)
AUTHORS Koslowski,M., Sahin,U., Dhaene,K., Huber,C. and Tureci,O.
TITLE MS4A12 is a colon-selective store-operated calcium channel
promoting malignant cell processes
JOURNAL Cancer Res. 68 (9), 3458-3466 (2008)
PUBMED 18451174
REMARK GeneRIF: MS4A12 is a colon-selective store-operated calcium channel
promoting malignant cell processes.
Erratum:[Cancer Res. 2008 Jun 15;68(12):4958]
REFERENCE 3 (bases 1 to 1044)
AUTHORS Lamesch,P., Li,N., Milstein,S., Fan,C., Hao,T., Szabo,G., Hu,Z.,
Venkatesan,K., Bethel,G., Martin,P., Rogers,J., Lawlor,S.,
McLaren,S., Dricot,A., Borick,H., Cusick,M.E., Vandenhaute,J.,
Dunham,I., Hill,D.E. and Vidal,M.
TITLE hORFeome v3.1: a resource of human open reading frames representing
over 10,000 human genes
JOURNAL Genomics 89 (3), 307-315 (2007)
PUBMED 17207965
REFERENCE 4 (bases 1 to 1044)
AUTHORS Liang,Y., Buckley,T.R., Tu,L., Langdon,S.D. and Tedder,T.F.
TITLE Structural organization of the human MS4A gene cluster on
Chromosome 11q12
JOURNAL Immunogenetics 53 (5), 357-368 (2001)
PUBMED 11486273
REFERENCE 5 (bases 1 to 1044)
AUTHORS Liang,Y. and Tedder,T.F.
TITLE Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene
family: sixteen new MS4A family members expressed in human and
mouse
JOURNAL Genomics 72 (2), 119-127 (2001)
PUBMED 11401424
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BP262076.1, BP262976.1 and
AK000224.1.
Summary: The protein encoded by this gene is a cell surface protein
found primarily in the apical membrane of colonocytes. Silencing of
this gene in colon cancer cells inhibits the proliferation, cell
motility, and chemotactic invasion of cells. This gene is part of a
cluster of similar genes found on chromosome 11. Two transcript
variants encoding different isoforms have been found for this gene.
[provided by RefSeq, Aug 2009].
Transcript Variant: This variant (2) lacks an alternate in-frame
exon compared to variant 1. The resulting isoform (2) has the same
N- and C-termini but is shorter compared to isoform 1.
##Evidence-Data-START##
RNAseq introns :: mixed/partial sample support ERS025094
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-4 BP262076.1 3-6
5-522 BP262976.1 5-522
523-1044 AK000224.1 661-1182
FEATURES Location/Qualifiers
source 1..1044
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q12"
gene 1..1044
/gene="MS4A12"
/gene_synonym="Ms4a10"
/note="membrane-spanning 4-domains, subfamily A, member
12"
/db_xref="GeneID:54860"
/db_xref="HGNC:13370"
/db_xref="MIM:606550"
exon 1..51
/gene="MS4A12"
/gene_synonym="Ms4a10"
/inference="alignment:Splign:1.39.8"
variation 2
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="g"
/db_xref="dbSNP:192351947"
misc_feature 31..33
/gene="MS4A12"
/gene_synonym="Ms4a10"
/note="upstream in-frame stop codon"
variation 31
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:71488477"
variation 48
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="c"
/db_xref="dbSNP:115937965"
exon 52..333
/gene="MS4A12"
/gene_synonym="Ms4a10"
/inference="alignment:Splign:1.39.8"
CDS 58..723
/gene="MS4A12"
/gene_synonym="Ms4a10"
/note="isoform 2 is encoded by transcript variant 2"
/codon_start=1
/product="membrane-spanning 4-domains subfamily A member
12 isoform 2"
/protein_id="NP_001157942.1"
/db_xref="GI:256600190"
/db_xref="CCDS:CCDS53638.1"
/db_xref="GeneID:54860"
/db_xref="HGNC:13370"
/db_xref="MIM:606550"
/translation="
MMSSKPTSHAEVNETIPNPYPPSSFMAPGFQQPLGSINLENQAQGAQRAQPYGITSPGIFASSQPGQGNIQMINPSVGTAVMNFKEEAKALGFIISGSLSVSASKELSRCLVKGSLGMNIVSSILAFIGVILLLVDMCINGVAGQDYWAVLSGKGISATLMIFSLLEFFVACATAHFANQANTTTNMSVLVIPNMYESNPVTPASSSAPPRCNNYSANAPK
"
misc_feature <334..591
/gene="MS4A12"
/gene_synonym="Ms4a10"
/note="CD20-like family; Region: CD20; pfam04103"
/db_xref="CDD:202888"
variation 86
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="c"
/db_xref="dbSNP:12788393"
variation 106
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:138899173"
variation 112
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="g"
/db_xref="dbSNP:367773011"
variation 150..151
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace=""
/replace="c"
/db_xref="dbSNP:370132588"
variation 150
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="c"
/db_xref="dbSNP:78557637"
variation 198
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:147360952"
variation 199
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:137894801"
variation 213
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:2298552"
variation 222
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:143911504"
variation 227
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:148561730"
variation 228
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:201559362"
variation 251
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:374598941"
variation 252
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:375239051"
variation 254
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:369153107"
variation 268
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:2298553"
variation 280
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="g"
/db_xref="dbSNP:146116909"
variation 328
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:78337068"
exon 334..390
/gene="MS4A12"
/gene_synonym="Ms4a10"
/inference="alignment:Splign:1.39.8"
variation 350
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="g"
/db_xref="dbSNP:376865209"
variation 358
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:370194824"
variation 382
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:200547614"
variation 383
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:111546873"
exon 391..507
/gene="MS4A12"
/gene_synonym="Ms4a10"
/inference="alignment:Splign:1.39.8"
variation 430
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="g"
/replace="t"
/db_xref="dbSNP:149091457"
variation 460
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:374195006"
variation 476
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:116528387"
exon 508..618
/gene="MS4A12"
/gene_synonym="Ms4a10"
/inference="alignment:Splign:1.39.8"
variation 517
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="c"
/db_xref="dbSNP:375256547"
variation 533
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:147819793"
variation 534
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:141480500"
variation 565
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:147008825"
variation 612
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:17852697"
exon 619..1029
/gene="MS4A12"
/gene_synonym="Ms4a10"
/inference="alignment:Splign:1.39.8"
variation 669
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:59813271"
variation 718
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="t"
/db_xref="dbSNP:376989014"
variation 766
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:2298559"
variation 767
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:201703923"
variation 768
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:373758551"
variation 926
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="a"
/replace="g"
/db_xref="dbSNP:188517726"
variation 934
/gene="MS4A12"
/gene_synonym="Ms4a10"
/replace="c"
/replace="t"
/db_xref="dbSNP:76519292"
polyA_signal 1006..1011
/gene="MS4A12"
/gene_synonym="Ms4a10"
polyA_site 1029
/gene="MS4A12"
/gene_synonym="Ms4a10"
ORIGIN
acacaggttggagcagagaaagaggaaacatagaggtgccaaaggaacaaagacataatgatgtcatccaagccaacaagccatgctgaagtaaatgaaaccatacccaacccttacccaccaagcagctttatggctcctggatttcaacagcctctgggttcaatcaacttagaaaaccaagctcagggtgctcagcgtgctcagccctacggcatcacatctccgggaatctttgctagcagtcaaccgggtcaaggaaatatacaaatgataaatccaagtgtgggaacagcagtaatgaactttaaagaagaagcaaaggcactagggtttattatctctggctctctctctgtgtcagcatccaaggagctttcccgttgtctggtgaaaggcagcctgggaatgaacattgttagttctatcttggccttcattggagtgattctgctgctggtggatatgtgcatcaatggggtagctggccaagactactgggccgtgctttctggaaaaggcatttcagccacgctgatgatcttctccctcttggagttcttcgtagcttgtgccacagcccattttgccaaccaagcaaacaccacaaccaatatgtctgtcctggttattccaaatatgtatgaaagcaaccctgtgacaccagcgtcttcttcagctcctcccagatgcaacaactactcagctaatgcccctaaatagtaaaagaaaaaggggtatcagtctaatctcatggagaaaaactacttgcaaaaacttcttaagaagatgtcttttattgtctacaatgatttctagtctttaaaaactgtgtttgagatttgtttttaggttggtcgctaatgatggctgtatctcccttcactgtctcttcctacattaccactactacatgctggcaaaggtgaaggatcagaggactgaaaaatgattctgcaactctcttaaagttagaaatgtttctgttcatattactttttccttaataaaatgtcattagaaacaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:54860 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
by
@meso_cacase at
DBCLS
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